Canonical Allele Identifier: CA354498362
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1007101
ClinVar RCV Id: RCV001304240
dbSNP Id: rs1418964117

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530972C>A , CM000665.2:g.129530972C>A GRCh38
NC_000003.11:g.129249815C>A , CM000665.1:g.129249815C>A GRCh37
NC_000003.10:g.130732505C>A NCBI36
NG_009115.1:g.7334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.458C>A MANE Select ENSP00000296271.3:p.Ala153Asp
ENST00000296271.3:c.458C>A ENSP00000296271.3:p.Ala153Asp
NM_000539.3:c.458C>A MANE Select NP_000530.1:p.Ala153Asp